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Träfflista för sökning "WFRF:(Christoph M) srt2:(2000-2004)"

Search: WFRF:(Christoph M) > (2000-2004)

  • Result 11-20 of 22
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  • Kalscheuer, Vera M, et al. (author)
  • Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
  • 2003
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 35:4, s. 313-315
  • Journal article (peer-reviewed)abstract
    • We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
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  • Schlumberger, Martin, et al. (author)
  • Follow-up of low-risk patients with differentiated thyroid carcinoma: a European perspective.
  • 2004
  • In: European journal of endocrinology / European Federation of Endocrine Societies. - 0804-4643. ; 150:2, s. 105-12
  • Journal article (peer-reviewed)abstract
    • OBJECTIVE: Because differentiated (follicular and papillary) thyroid cancer (DTC) may recur years after initial treatment, the follow-up of patients with DTC is long term. However, this population has changed, with more individuals being discovered at an earlier stage of the disease, so that previous follow-up protocols based mostly on data from high-risk patients no longer apply. We sought to develop an improved protocol for the follow-up of low-risk patients with DTC based on the findings of recent studies. METHODS: We analysed recent literature on the follow-up of DTC. RESULTS: Recent large studies have produced three important findings: (i) in patients with low-risk DTC with no evidence of disease up to the 6- to 12-month follow-up, diagnostic whole-body scan adds no information when serum thyroglobulin (Tg) is undetectable and interference from anti-Tg antibodies is absent; (ii) use of recombinant human thyroid-stimulating hormone to aid Tg measurement is effective and provides greater safety, quality-of-life and work productivity than does levothyroxine withdrawal with its attendant hypothyroidism; and (iii) ultrasonography performed by an experienced operator is the most sensitive means of detecting neck recurrences of DTC. CONCLUSIONS: We present a revised follow-up protocol for low-risk patients taking into account the above findings. This protocol should help clinicians enter a new era of monitoring characterized by greater safety, simplicity, convenience and cost savings.
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  • Result 11-20 of 22
Type of publication
journal article (11)
conference paper (10)
patent (1)
Type of content
peer-reviewed (19)
other academic/artistic (2)
pop. science, debate, etc. (1)
Author/Editor
Oppeneer, Peter M. (8)
Bargholtz, Christoph (7)
Fransson, Kjell (6)
Gornov, M. (6)
Calén, Hans (5)
Ekström, Curt (5)
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Clement, Heinz (5)
Höistad, Bo (4)
Gerén, L. (4)
Gustafsson, Leif (3)
Gurov, Y. (3)
Andersson, M (3)
Tegner, Per-Erik (3)
Chernyshev, B. (3)
Grebenev, V. (3)
Gaupp, Andreas (3)
Bogoslawsky, D. (3)
Fridén, Carl-Johan (3)
Bondar, A. (2)
Jacewicz, M (2)
Schneider, Claus M. (2)
Sandukovski, V. (2)
Shafigullin, R. (2)
and Wilhelmsen Rolan ... (2)
Ivanov, G. (2)
Cappellaro, Filippo (2)
Grishin, Alexander M ... (1)
Holmberg, L (1)
Berg, Gertrud, 1944 (1)
Glitho, Roch (1)
Khartsev, Sergiy (1)
Bashkanov, M. (1)
Jacewicz, Marek (1)
Kullander, Sven (1)
Zabierowski, Janusz (1)
Nuber, Ulrike (1)
Scherthan, Harry (1)
Weiss, G. (1)
Fumero, E (1)
Lindh, K (1)
Sitnikova, I (1)
Mårtensson, L. (1)
Wilhelmsen Rolander, ... (1)
Tan, A. (1)
Koch, Inken (1)
Jarzab, Barbara (1)
Blomqvist, Mats (1)
Rinio, Markus (1)
Kanter, Theo (1)
Petraru, Adrian (1)
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University
Uppsala University (16)
University of Gothenburg (1)
Royal Institute of Technology (1)
Linköping University (1)
Lund University (1)
Mid Sweden University (1)
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Karlstad University (1)
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Language
English (22)
Research subject (UKÄ/SCB)
Natural sciences (9)
Medical and Health Sciences (2)
Engineering and Technology (1)

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